Resultados de procura - Margareta Nordling
- Mostrando 1 - 13 Resultados de 13
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Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: Cumulative risks and APC gene mutations por Jan Björk, Helena I. Åkerbrant, Lennart Iselius, Annika Bergman, Yvonne Engwall, Jan Wahlström, Tommy Martinsson, Margareta Nordling, Rolf Hultcrantz
Publicado 2001Artigo -
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Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis por Anna Rohlin, Yvonne Engwall, Kaisa Fritzell, Katarina E. Göransson, Alicia Bergsten, Zakaria Einbeigi, Mef Nilbert, Per Karlsson, Jan Björk, Margareta Nordling
Publicado 2011Artigo -
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<scp> <i>GREM</i> </scp> <i>1</i> and <scp>POLE</scp> variants in hereditary colorectal cancer syndromes por Anna Rohlin, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Staffan Nilsson, Anders Edsjö, Jan Pedersen, Jan-Henry Svensson, S. Skullman, Göran Karlsson, Jan Björk, Margareta Nordling
Publicado 2015Artigo -
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Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing por Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebré‐Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Publicado 2016Artigo -
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Update on genetic predisposition to colorectal cancer and polyposis por Laura Valle, Richarda M. de Voer, Yael Goldberg, Wenche Sjursen, Asta Försti, Clara Ruíz-Ponte, Trinidad Caldés, Pilar Garré, Maren Fridtjofsen Olsen, Margareta Nordling, Sergi Castellvı́-Bel, Kari Hemminki
Publicado 2019Revisão -
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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition por Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebré‐Medhin, Margareta Nordling, Païvi Peltomäki, Gustav Silander, Ekaterina Kuchinskaya, Christos Aravidis, Theofanis Zagoras, Mef Nilbert, Åke Borg
Publicado 2018Artigo -
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Pa... por Isabel Spier, Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter, Julie Boyle, Pilar Mur, Thomas van Overeem Hansen, Xuemei Shi, Khalid Mahmood, John‐Paul Plazzer, Elisabet Ognedal, Margareta Nordling, Susan M. Farrington, Gou Yamamoto, Stéphanie Baert‐Desurmont, Alexandra Martins, Ester Borràs, Carli M.J. Tops, Erica Webb, Victoria Beshay, Maurizio Genuardi, Tina Pesaran, Gabriel Capellà, Sean V. Tavtigian, Andrew Latchford, Ian M. Frayling, Sharon E. Plon, Marc S. Greenblatt, Finlay Macrae, Stefan Aretz
Publicado 2023Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Mutation
Cancer
Colorectal cancer
Germline mutation
Familial adenomatous polyposis
Germline
Medicine
DNA mismatch repair
Biochemistry
Cancer research
Chemistry
Lynch syndrome
Molecular biology
Adenomatous polyposis coli
Allele
Azurin
Biophysics
Copper
Copy-number variation
Electron transfer
Exome sequencing
Gene duplication
Gene expression
Genetic testing
Genome
Genotype
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